Human Genome Epidemiology Literature Finder
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Records 1 - 29 (of 29 Records) |
| Query Trace: Disease and COL1A2[original query] |
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| Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis. Clinical genetics 2007 May 71 (5): 406-14. Chen W, Meyer N C, McKenna M J, Pfister M, McBride D J, Fukushima K, Thys M, Camp G V, Smith R J |
| Cranial base abnormalities in osteogenesis imperfecta: phenotypic and genotypic determinants. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2011 Feb 26 (2): 405-13. Cheung Moira S, Arponen Heidi, Roughley Peter, Azouz Michel E, Glorieux Francis H, Waltimo-Sirén Janna, Rauch Fra |
| Body Composition in Children and Adolescents with Osteogenesis Imperfecta. The Journal of pediatrics 2015 Nov . Palomo Telma, Glorieux Francis H, Schoenau Eckhard, Rauch Fra |
| Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil: role of COL1A1. Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2015 Mar 30 225-9. Almeida Lucas, Oliveira Joyce, Guimarães Luiz Henrique, Carvalho Edgar M, Blackwell Jenefer M, Castellucci L |
| Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice. Scientific reports 2016 6 28417. Árvai Kristóf, Horváth Péter, Balla Bernadett, Tobiás Bálint, Kató Karina, Kirschner Gyöngyi, Klujber Valéria, Lakatos Péter, Kósa János |
| Collagen Type I Alpha 2 (COL1A2) Polymorphism Contributes to Intracranial Aneurysm Susceptibility: A Meta-Analysis. Medical science monitor : international medical journal of experimental and clinical research 2017 Jul 23 3240-3246. Gan Qi, Liu Qianqian, Hu Xin, You Ch |
| Genetic analysis of adults heterozygous for ALPL mutations. Journal of bone and mineral metabolism 2017 12 36 (6): 723-733. Taillandier Agnès, Domingues Christelle, Dufour Annika, Debiais Françoise, Guggenbuhl Pascal, Roux Christian, Cormier Catherine, Cortet Bernard, Porquet-Bordes Valérie, Coury Fabienne, Geneviève David, Chiesa Jean, Colin Thierry, Fletcher Elaine, Guichet Agnès, Javier Rose-Marie, Laroche Michel, Laurent Michael, Lausch Ekkehart, LeHeup Bruno, Lukas Cédric, Schwabe Georg, van der Burgt Ineke, Muti Christine, Simon-Bouy Brigitte, Mornet Etien |
| Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta. Clinica chimica acta; international journal of clinical chemistry 2018 5 484 141-147. Mohd Nawawi Nadiah, Selveindran Nalini M, Rasat Rahmah, Chow Yock Ping, Abdul Latiff Zarina, Syed Zakaria Syed Zulkifli, Jamal Rahman, Abdul Murad Nor Azian, Abd Aziz Bilkis Ba |
| Genotype and malocclusion in patients with osteogenesis imperfecta. Orthodontics & craniofacial research 2018 2 21 (2): 71-77. Jabbour Z, Al-Khateeb A, Eimar H, Retrouvey J M, Rizkallah J, Glorieux F H, Rauch F, Tamimi |
| Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen. Genetics in medicine : official journal of the American College of Medical Genetics 2018 10 21 (5): 1233-1239. Barber Lauren A, Abbott Craig, Nakhate Vihang, Do An N Dang, Blissett Angela R, Marini Joan |
| Osteogenesis imperfecta in Brazilian patients. Genetics and molecular biology 2019 8 42 (2): 344-350. Trancozo Maira, Moraes Marcos V D, Silva Dalila A, Soares Jéssica A M, Barbirato Clara, Almeida Márcio G, Santos Lígia R, Rebouças Maria R G O, Akel Akel N, Sipolatti Valentim, Nunes Vanda R R, Errera Flavia I V, Aguena Meire, Passos-Bueno Maria R, Paula Flavia |
| Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients. European journal of human genetics : EJHG 2019 3 27 (7): 1090-1100. Maioli Margherita, Gnoli Maria, Boarini Manila, Tremosini Morena, Zambrano Anna, Pedrini Elena, Mordenti Marina, Corsini Serena, D'Eufemia Patrizia, Versacci Paolo, Celli Mauro, Sangiorgi Lu |
| Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I. Injury 2019 10 50 (12): 2215-2219. Lin Yuxiang, Li Xiaoli, Huang Xinghua, Zheng Dezhu, Liu Yichu, Lan Fenghua, Wang Zhiho |
| Assessment of longitudinal bone growth in osteogenesis imperfecta using metacarpophalangeal pattern profiles. Bone 2020 7 140 115547. Rauch Damian, Robinson Marie-Eve, Seiltgens Cristian, Sutton V Reid, Lee Brendan, Glorieux Francis, Rauch Fra |
| Evaluating the Association Between Dental Fluorosis and Polymorphisms in Bone Development and Mineralization Genes Among Population from a Fluoride Endemic Region of Eastern India. Biological trace element research 2020 3 199 (1): 1-8. Saha Depanwita, Goswami Rakesh, Majumdar Kunal Kanti, Sikdar Nilabja, Pramanik Sreeman |
| Genetic Polymorphisms of MMP1, MMP9, COL1A1, and COL1A2 in Polish Patients with Thoracic Aortopathy. Disease markers 2020 2020 9567239. Gor?cy Iwona, Grudniewicz Seweryn, Safranow Krzysztof, Ciechanowicz Andrzej, Jakubiszyn Pawe?, Gor?cy Anna, Brykczy?ski Miros? |
| Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history. Archives of osteoporosis 2021 6 16 (1): 88. Harrington Jennifer, AlSubaihin Abdulmajeed, Dupuis Lucie, Kannu Peter, Mendoza-Londono Roberto, Howard Andr |
| Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis. Bone 2021 11 154 116253. Cohen Adi, Hostyk Joseph, Baugh Evan H, Buchovecky Christie M, Aggarwal Vimla S, Recker Robert R, Lappe Joan M, Dempster David W, Zhou Hua, Kamanda-Kosseh Mafo, Bucovsky Mariana, Stubby Julie, Goldstein David B, Shane Elizabe |
| Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing. Journal of immunology research 2022 6 2022 5068523. Tan Wei, Ji Yuelun, Qian Yuepeng, Lin Yongchang, Ye Ruolian, Wu Weiping, Li Yibin, Sun Yongjian, Pan Jiany |
| On the association between Chiari malformation type 1, bone mineral density and bone related genes. Bone reports 2022 3 16 101181. Martínez-Gil Núria, Mellibovsky Leonardo, Manzano-López González Demián, Patiño Juan David, Cozar Monica, Rabionet Raquel, Grinberg Daniel, Balcells Susan |
| Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders. The Journal of clinical endocrinology and metabolism 2022 3 107 (7): e3048-e3057. Oheim Ralf, Tsourdi Elena, Seefried Lothar, Beller Gisela, Schubach Max, Vettorazzi Eik, Stürznickel Julian, Rolvien Tim, Ehmke Nadja, Delsmann Alena, Genest Franca, Krüger Ulrike, Zemojtel Tomasz, Barvencik Florian, Schinke Thorsten, Jakob Franz, Hofbauer Lorenz C, Mundlos Stefan, Kornak U |
| Low expression of the metabolism-related gene SLC25A21 predicts unfavourable prognosis in patients with acute myeloid leukaemia. Frontiers in genetics 2022 10 13 970316. Wang Wenjun, Liang Qian, Zhao Jingyu, Pan Hong, Gao Zhen, Fang Liwei, Zhou Yuan, Shi J |
| Possible Association Between Polymorphisms in ESR1, COL1A2, BGLAP, SPARC, VDR, and MMP2 Genes and Dental Fluorosis in a Population from an Endemic Region of West Bengal. Biological trace element research 2022 Jan . Chakraborty Arijit, Pramanik Sreemanta, Datta Kallol, Goswami Rakesh, Saha Depanwita, Majumdar Kunal Kanti, Sikdar Nilab |
| Genetic Polymorphisms in COL1A2 gene and the Risk of Tendinopathy: Case-Control Study. Revista brasileira de ortopedia 2023 7 58 (3): 478-486. Lucas Rafael Lopes, João Antônio Matheus Guimarães, Marcus Vinicius Galvão Amaral, Camili Gomes Pereira, Victor Soares Wainchtock, Rodrigo Araujo Goes, Vitor Almeida Ribeiro de Miranda, Jamila Alessandra Peri |
| Genotype-phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta. Journal of endocrinological investigation 2023 6 . X Lin, J Hu, B Zhou, Q Zhang, Y Jiang, O Wang, W Xia, X Xing, M |
| Genetic diagnosis of fetal microcephaly at a single tertiary center in China. Frontiers in genetics 2023 5 14 1112153. You Wang, Fang Fu, Tingying Lei, Li Zhen, Qiong Deng, Hang Zhou, Chunling Ma, Ken Cheng, Ruibin Huang, Ru Li, Qiuxia Yu, Lushan Li, Jin Han, Xin Yang, Dongzhi Li, Can Li |
| Identification of differentially expressed genes to predict the risk of heart failure in older patients with hypertrophic cardiomyopathy. Aging 2024 7 16 . Hao Dong, Chufan Yin, Dongping Xiao, Yong Ta |
| Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta. The Journal of molecular diagnostics : JMD 2024 7 . Lamiya Aliyeva, Yasemin Denkboy Ongen, Erdal Eren, Mehmet Bartu Sarisozen, Adem Alemdar, Sehime G Temel, Sebnem Ozemri S |
| Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and Their Genotype-phenotype Correlation. Journal of clinical research in pediatric endocrinology 2024 6 . Samim Özen, Damla Gök?en, Ferda Evin, Esra I??k, Hüseyin Onay, Bilça? Akgün, Aysun Ata, Tahir Atik, Füsun Düzcan, Ferda Özk?nay, ?ükran Darcan, Özgür Ço?u |
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